NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) AND Biotinidase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 19, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002664296.5

Allele description [Variation Report for NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)]

NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)

HGVS:

NC_000003.12:g.15645208G>A
NG_008019.2:g.48857G>A
NG_008019.3:g.48858G>A
NM_000060.4:c.1352G>A
NM_001281723.4:c.1292G>A
NM_001281724.3:c.1292G>A
NM_001281725.3:c.1292G>A
NM_001323582.2:c.1292G>A
NM_001370658.1:c.1292G>AMANE SELECT
NM_001370752.1:c.1015+277G>A
NM_001370753.1:c.399+3151G>A
NM_001407364.1:c.1292G>A
NM_001407365.1:c.1292G>A
NM_001407366.1:c.1292G>A
NM_001407367.1:c.1292G>A
NM_001407368.1:c.1292G>A
NM_001407369.1:c.1292G>A
NM_001407370.1:c.1292G>A
NM_001407371.1:c.1292G>A
NM_001407372.1:c.1292G>A
NM_001407373.1:c.1292G>A
NM_001407374.1:c.1292G>A
NM_001407375.1:c.1292G>A
NM_001407376.1:c.1292G>A
NM_001407377.1:c.1292G>A
NM_001407378.1:c.1292G>A
NP_000051.1:p.Gly451Asp
NP_001268652.2:p.Gly431Asp
NP_001268652.2:p.Gly431Asp
NP_001268653.2:p.Gly431Asp
NP_001268654.1:p.Gly431Asp
NP_001268654.1:p.Gly431Asp
NP_001310511.1:p.Gly431Asp
NP_001310511.1:p.Gly431Asp
NP_001357587.1:p.Gly431Asp
NP_001394293.1:p.Gly431Asp
NP_001394294.1:p.Gly431Asp
NP_001394295.1:p.Gly431Asp
NP_001394296.1:p.Gly431Asp
NP_001394297.1:p.Gly431Asp
NP_001394298.1:p.Gly431Asp
NP_001394299.1:p.Gly431Asp
NP_001394300.1:p.Gly431Asp
NP_001394301.1:p.Gly431Asp
NP_001394302.1:p.Gly431Asp
NP_001394303.1:p.Gly431Asp
NP_001394304.1:p.Gly431Asp
NP_001394305.1:p.Gly431Asp
NP_001394306.1:p.Gly431Asp
NP_001394307.1:p.Gly431Asp
NC_000003.11:g.15686715G>A
NM_001281723.3:c.1292G>A
NM_001281725.2:c.1292G>A
NM_001323582.1:c.1292G>A
P43251:p.Gly451Asp

Protein change:

G431D

Links:

UniProtKB: P43251#VAR_005118; dbSNP: rs397514419

NCBI 1000 Genomes Browser:

rs397514419

Molecular consequence:

NM_001370752.1:c.1015+277G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+3151G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000060.4:c.1352G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Biotinidase deficiency
Synonyms:: BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency; Biotin deficiency
Identifiers:: MONDO: MONDO:0009665; MedGen: C0220754; Orphanet: 79241; OMIM: 253260

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003525318	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 19, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9654207, 26361991, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003525318

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 19, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

Swango KL, Demirkol M, Hüner G, Pronicka E, Sykut-Cegielska J, Schulze A, Mayatepek E, Wolf B.

Hum Genet. 1998 May;102(5):571-5. Erratum in: Hum Genet 1998 Jun;102(6):712.

PubMed [citation]

PMID:: 9654207

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA.

Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31.

PubMed [citation]

PMID:: 26361991

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003525318.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with clinical features of biotinidase deficiency (PMID: 9654207, 26361991). This variant is present in population databases (rs397514419, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 451 of the BTD protein (p.Gly451Asp).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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